Canonical Allele Identifier: CA2778230683

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321954del , CM000669.2:g.143321954del	GRCh38
NC_000007.13:g.143019047del , CM000669.1:g.143019047del	GRCh37
NC_000007.12:g.142729169del	NCBI36
NG_009815.1:g.10829del
NG_009815.2:g.10829del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.696+106del	ENSP00000498052.2:n.696+106del
ENST00000343257.7:c.696+106del MANE Select	ENSP00000339867.2:n.696+106del
ENST00000432192.6:c.464+106del
ENST00000455478.6:c.150+106del	ENSP00000400027.2:n.150+106del
ENST00000650516.1:c.696+106del	ENSP00000498052.1:n.696+106del
ENST00000343257.6:c.696+106del	ENSP00000339867.2:n.696+106del
ENST00000432192.5:c.154+106del
ENST00000455478.5:c.154+106del
ENST00000495612.1:n.154+106del
NM_000083.2:c.696+106del	NP_000074.2:n.696+106del
NR_046453.1:n.783+106del
XM_011515781.1:c.696+106del	XP_011514083.1:n.696+106del
XM_017011739.1:c.403+106del	XP_016867228.1:n.403+106del
XM_017011740.1:c.403+106del	XP_016867229.1:n.403+106del
NM_000083.3:c.696+106del MANE Select	NP_000074.3:n.696+106del
NR_046453.2:n.798+106del